GM26112
LCL from B-Lymphocyte
Description:
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Italian/Irish
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
ACTA1 |
| Chromosomal Location |
1q42.13 |
| Allelic Variant 1 |
; |
| Identified Mutation |
GLY48CYS |
| Remarks |
Clinically affected; onset of symptoms at birth; diagnosed at 12 weeks of age by geneticist; neonatal hypotonia; low muscle tone; whole exome sequencing revealed the donor is heterozygous for a pathogenic de novo c.142C>A (p.Gly48Cys) mutation in the ACTA1 gene (human genome build GRCh37/UCSC hg19). |
| Gene Cards |
ACTA1 |
| Gene Ontology |
GO:0003774 motor activity |
|
GO:0005200 structural constituent of cytoskeleton |
|
GO:0005884 actin filament |
|
GO:0006936 muscle contraction |
|
GO:0007517 muscle development |
| NCBI Gene |
Gene ID:4349 |
|
Gene ID:4754 |
|
Gene ID:58 |
| NCBI GTR |
102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 |
|
161800 NEMALINE MYOPATHY 3; NEM3 |
|
255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
| OMIM |
102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 |
|
161800 NEMALINE MYOPATHY 3; NEM3 |
|
255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
| Omim Description |
FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM |
| |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|